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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-11350931-GT-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11350931&ref=GT&alt=CC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC159",
"hgnc_id": 26996,
"hgvs_c": "c.350_351delGTinsCC",
"hgvs_p": "p.Arg117Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001080503.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1049,
"cdna_start": 438,
"cds_end": null,
"cds_length": 894,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080503.3",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.350_351delGTinsCC",
"hgvs_p": "p.Arg117Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000458408.6",
"protein_coding": true,
"protein_id": "NP_001073972.2",
"strand": true,
"transcript": "NM_001080503.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1049,
"cdna_start": 438,
"cds_end": null,
"cds_length": 894,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000458408.6",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.350_351delGTinsCC",
"hgvs_p": "p.Arg117Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080503.3",
"protein_coding": true,
"protein_id": "ENSP00000402239.1",
"strand": true,
"transcript": "ENST00000458408.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1230,
"cdna_start": 522,
"cds_end": null,
"cds_length": 993,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853370.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.350_351delGTinsCC",
"hgvs_p": "p.Arg117Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523429.1",
"strand": true,
"transcript": "ENST00000853370.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 797,
"cds_end": null,
"cds_length": 894,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588790.5",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.350_351delGTinsCC",
"hgvs_p": "p.Arg117Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468232.1",
"strand": true,
"transcript": "ENST00000588790.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 296,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": 447,
"cds_end": null,
"cds_length": 891,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853371.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.347_348delGTinsCC",
"hgvs_p": "p.Arg116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523430.1",
"strand": true,
"transcript": "ENST00000853371.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 295,
"aa_ref": "R",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": 432,
"cds_end": null,
"cds_length": 888,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853372.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.344_345delGTinsCC",
"hgvs_p": "p.Arg115Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523431.1",
"strand": true,
"transcript": "ENST00000853372.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 292,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": 522,
"cds_end": null,
"cds_length": 879,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853369.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.350_351delGTinsCC",
"hgvs_p": "p.Arg117Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523428.1",
"strand": true,
"transcript": "ENST00000853369.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1024,
"cdna_start": 430,
"cds_end": null,
"cds_length": 876,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853373.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.347_348delGTinsCC",
"hgvs_p": "p.Arg116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523432.1",
"strand": true,
"transcript": "ENST00000853373.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 139,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 527,
"cdna_start": 387,
"cds_end": null,
"cds_length": 421,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586451.5",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.281_282delGTinsCC",
"hgvs_p": "p.Arg94Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465560.1",
"strand": true,
"transcript": "ENST00000586451.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 602,
"cdna_start": 495,
"cds_end": null,
"cds_length": 388,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588592.5",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.281_282delGTinsCC",
"hgvs_p": "p.Arg94Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465790.1",
"strand": true,
"transcript": "ENST00000588592.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 108,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 534,
"cdna_start": 486,
"cds_end": null,
"cds_length": 329,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000587531.5",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.281_282delGTinsCC",
"hgvs_p": "p.Arg94Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466882.1",
"strand": true,
"transcript": "ENST00000587531.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1053,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026255.2",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.458_459delGTinsCC",
"hgvs_p": "p.Arg153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881744.1",
"strand": true,
"transcript": "XM_017026255.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1047,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026256.3",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.452_453delGTinsCC",
"hgvs_p": "p.Arg151Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881745.1",
"strand": true,
"transcript": "XM_017026256.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 333,
"aa_ref": "R",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1167,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1002,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722643.2",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.458_459delGTinsCC",
"hgvs_p": "p.Arg153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722706.1",
"strand": true,
"transcript": "XM_006722643.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": 563,
"cds_end": null,
"cds_length": 996,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438146.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.452_453delGTinsCC",
"hgvs_p": "p.Arg151Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294102.1",
"strand": true,
"transcript": "XM_047438146.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": 805,
"cds_end": null,
"cds_length": 972,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438147.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.377_378delGTinsCC",
"hgvs_p": "p.Arg126Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294103.1",
"strand": true,
"transcript": "XM_047438147.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 812,
"cds_end": null,
"cds_length": 972,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438148.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.377_378delGTinsCC",
"hgvs_p": "p.Arg126Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294104.1",
"strand": true,
"transcript": "XM_047438148.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": 686,
"cds_end": null,
"cds_length": 972,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438149.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.377_378delGTinsCC",
"hgvs_p": "p.Arg126Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294105.1",
"strand": true,
"transcript": "XM_047438149.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 675,
"cds_end": null,
"cds_length": 972,
"cds_start": 377,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438150.1",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.377_378delGTinsCC",
"hgvs_p": "p.Arg126Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294106.1",
"strand": true,
"transcript": "XM_047438150.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 314,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 438,
"cds_end": null,
"cds_length": 945,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026258.3",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.350_351delGTinsCC",
"hgvs_p": "p.Arg117Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881747.1",
"strand": true,
"transcript": "XM_017026258.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 313,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1232,
"cdna_start": 445,
"cds_end": null,
"cds_length": 942,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011527678.3",
"gene_hgnc_id": 26996,
"gene_symbol": "CCDC159",
"hgvs_c": "c.347_348delGTinsCC",
"hgvs_p": "p.Arg116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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